Abstract
The parental origin of the extra chromosome 21 (or extra 21q) was determined in seven informative families with a Down syndrome (DS) child by using molecular polymorphisms. Five DS patients had regular trisomy, one a de novo 14/21 translocation and another a de novo 21/21 translocation or isochromosome 21q. In four families with regular trisomy, the extra chromosome was of maternal origin, and in one family it was paternally derived. In the two families with a de novo aberration, both the 14/21 translocation and 21/21 rearrangement originated during maternal meiosis. For a better evaluation of the stage of meiotic error and the occurrence of crossovers between nondisjoined chromosomes, the regional map position of four of the nine informative DNA markers, used in this study, was refined, leading to useful localizations in both centromeric and distal regions. Recombination events were found in two families with regular trisomy, one occurring between chromosomes 21 that failed to disjoin at maternal meiosis I, the other prior to a paternal meiosis II nondisjunction.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 125-128 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Issue number | SUPPL. 7 |
| State | Published - 1990 |
| Externally published | Yes |
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Keywords
- crossover
- meiotic stage
- nondisjunction
ASJC Scopus subject areas
- Genetics(clinical)
- Medicine(all)
Cite this
Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies. / Brahe, C.; Tassone, Flora; Moscetti, A.; Millington-Ward, A.; Bova, R.; Serra, A.
In: American Journal of Medical Genetics, No. SUPPL. 7, 1990, p. 125-128.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies
AU - Brahe, C.
AU - Tassone, Flora
AU - Moscetti, A.
AU - Millington-Ward, A.
AU - Bova, R.
AU - Serra, A.
PY - 1990
Y1 - 1990
N2 - The parental origin of the extra chromosome 21 (or extra 21q) was determined in seven informative families with a Down syndrome (DS) child by using molecular polymorphisms. Five DS patients had regular trisomy, one a de novo 14/21 translocation and another a de novo 21/21 translocation or isochromosome 21q. In four families with regular trisomy, the extra chromosome was of maternal origin, and in one family it was paternally derived. In the two families with a de novo aberration, both the 14/21 translocation and 21/21 rearrangement originated during maternal meiosis. For a better evaluation of the stage of meiotic error and the occurrence of crossovers between nondisjoined chromosomes, the regional map position of four of the nine informative DNA markers, used in this study, was refined, leading to useful localizations in both centromeric and distal regions. Recombination events were found in two families with regular trisomy, one occurring between chromosomes 21 that failed to disjoin at maternal meiosis I, the other prior to a paternal meiosis II nondisjunction.
AB - The parental origin of the extra chromosome 21 (or extra 21q) was determined in seven informative families with a Down syndrome (DS) child by using molecular polymorphisms. Five DS patients had regular trisomy, one a de novo 14/21 translocation and another a de novo 21/21 translocation or isochromosome 21q. In four families with regular trisomy, the extra chromosome was of maternal origin, and in one family it was paternally derived. In the two families with a de novo aberration, both the 14/21 translocation and 21/21 rearrangement originated during maternal meiosis. For a better evaluation of the stage of meiotic error and the occurrence of crossovers between nondisjoined chromosomes, the regional map position of four of the nine informative DNA markers, used in this study, was refined, leading to useful localizations in both centromeric and distal regions. Recombination events were found in two families with regular trisomy, one occurring between chromosomes 21 that failed to disjoin at maternal meiosis I, the other prior to a paternal meiosis II nondisjunction.
KW - crossover
KW - meiotic stage
KW - nondisjunction
UR - http://www.scopus.com/inward/record.url?scp=0025616859&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0025616859&partnerID=8YFLogxK
M3 - Article
C2 - 2149938
AN - SCOPUS:0025616859
SP - 125
EP - 128
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
SN - 1552-4825
IS - SUPPL. 7
ER -